{"code":"C129976","name":"Kleefstra Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":true,"active":true,"synonyms":[{"name":"Kleefstra Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Chromosome 9q34.3 Deletion Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Kleefstra Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Kleefstra Syndrome","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A condition caused by mutation or deletion of the EHMT1 gene, encoding histone-lysine N-methyltransferase EHMT1. It is characterized by severe intellectual disability, hypotonia, cardiac defects, and characteristic facial features.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0795833"}],"parents":[{"code":"C53543","name":"Rare Non-Neoplastic Disorder"}],"roles":[{"code":"R176","type":"Disease_Mapped_To_Gene","relatedCode":"C75326","relatedName":"EHMT1 Gene"},{"code":"R174","type":"Disease_Mapped_To_Chromosome","relatedCode":"C13225","relatedName":"Human Chromosome 9"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"}]}